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Start free with EleplanCamptodactyly syndrome, Guadalajara type 1
ORPHA:1327Malformation syndrome
What it is
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
12Common30–79%
28- Anteverted nares
- Brachycephaly
- Brachydactyly
- Cubitus valgus
- Delayed skeletal maturation
- Depressed nasal bridge
- Downturned corners of mouth
- Epicanthus
- Global developmental delay
- Hallux valgus
- High palate
- Intellectual disability
- Intrauterine growth retardation
- Mandibular prognathia
- Melanocytic nevus
- Microcephaly
- Microcornea
- Narrow chest
- Narrow face
- Narrow mouth
- Scapular winging
- Seizure
- Short nose
- Short stature
- Short toe
- Spina bifida
- Toe syndactyly
- Underdeveloped supraorbital ridges
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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